WDR62 Gene Microcephaly with cortical malformations, autosomal recessive type 2 NGS Genetic Test
Short Name: WDR62 NGS Test
Also known as: WDR62 Gene Sequencing, Microcephaly Type 2 Genetic Test, WDR62 Mutation Analysis
WDR62 Gene Microcephaly with cortical malformations, autosomal recessive type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm a clinical diagnosis of WDR62-related microcephaly with cortical malformations, identify the specific genetic mutation, and provide information for recurrence risk assessment and family planning.
- Test Code
- 5847
- CPT Code
- 81407
- ICD Code
- Q04.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss the implications and obtain informed consent.
Method: Venipuncture
Laboratory Analysis
A blood sample is collected by a trained phlebotomist using sterile techniques. The procedure is quick and minimally invasive.
Report Delivery
No specific precautions are needed. The sample is transported to the laboratory for analysis.
Timeline: 3 to 4 weeks from sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm a clinical diagnosis of WDR62-related microcephaly with cortical malformations, identify the specific genetic mutation, and provide information for recurrence risk assessment and family planning.
How to Prepare
- Ensure the patient's identity is verified before sample collection.
- Use an EDTA vacutainer for blood collection.
- Label the sample with patient's name, date of birth, and collection date.
- If using FTA card, apply one drop of blood and allow to dry completely.
- Transport the sample to the laboratory at ambient temperature.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for WDR62 mutations is crucial for confirming the diagnosis and providing accurate recurrence risk counseling for families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Incorrect labeling
- Sample received after prolonged transit time
- Insufficient sample volume
Understanding Your Results
Pathogenic variant detected
Confirms the diagnosis. Both parents are likely carriers. Recurrence risk for future pregnancies is 25%.
Likely pathogenic variant detected
Highly suggestive of the condition. Further functional studies may be needed.
Variant of uncertain significance (VUS)
Cannot be definitively classified. Additional family studies or functional assays may be required.
No pathogenic variant detected
Does not rule out the condition. Other genetic or non-genetic causes should be considered.
Consult a clinical geneticist or pediatric neurologist if your child has microcephaly, developmental delay, seizures, or abnormal brain imaging. Genetic counseling is recommended before and after testing to understand the implications.
Limitations
- ⚠This test detects mutations in the WDR62 gene only; other genes associated with microcephaly are not analyzed.
- ⚠Variant interpretation may be limited by current scientific knowledge.
- ⚠Large structural rearrangements may not be detected by NGS alone.
- ⚠Results should be interpreted in the context of clinical findings and family history.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving a genetic diagnosis
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Insufficient sample quantity
- ●Maternal cell contamination in prenatal samples
- ●Presence of large deletions/duplications not detected by standard NGS
Compare With Similar Tests
| Test | WDR62 Gene Microcephaly with cortical malformations, autosomal recessive type 2 NGS Genetic Test | Chromosomal Microarray (CMA) | Whole Exome Sequencing (WES) | Targeted WDR62 Sanger Sequencing |
|---|---|---|---|---|
| Comparison | WDR62 Gene Microcephaly with cortical malformations, autosomal recessive type 2 NGS Genetic Test |
Frequently Asked Questions
What is the cost of the WDR62 gene microcephaly NGS test?
What sample is required for this test?
How long does it take to get results?
Is fasting required before the test?
What does the test detect?
Who should consider this test?
Is home sample collection available?
What is the turnaround time?
Can this test be done on an FTA card?
What is the inheritance pattern of this condition?
Are there any risks associated with the test?
Will the test be covered by insurance?
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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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